Linked Data
dbSNP Id:
rs755937370
ExAC:
14:92343979 A / AATT
MyVariant Identifiers:
chr14:g.92343979_92343980insATT (hg19)
chr14:g.91877635_91877636insATT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91877636_91877637insTTA , CM000676.2:g.91877636_91877637insTTA | GRCh38 |
| NC_000014.8:g.92343980_92343981insTTA , CM000676.1:g.92343980_92343981insTTA | GRCh37 |
| NC_000014.7:g.91413733_91413734insTTA | NCBI36 |
| NG_008254.1:g.75067_75068insAAT , LRG_364:g.75067_75068insAAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557088.6:c.*1002_*1003insAAT | ENSP00000451002.1:n.*1002_*1003insAAT | |
| ENST00000557570.2:c.868_869insAAT | ENSP00000450787.2:p.Phe290Ter | |
| ENST00000706675.1:n.851_852insAAT | ||
| ENST00000706676.1:c.1210_1211insAAT | ENSP00000516492.1:p.Phe404Ter | |
| ENST00000706677.1:c.1036_1037insAAT | ENSP00000516493.1:p.Phe346Ter | |
| ENST00000706678.1:n.956_957insAAT | ||
| ENST00000706679.1:c.868_869insAAT | ENSP00000516494.1:p.Phe290Ter | |
| ENST00000706680.1:c.*879_*880insAAT | ENSP00000516495.1:n.*879_*880insAAT | |
| ENST00000706681.1:c.*775_*776insAAT | ENSP00000516496.1:n.*775_*776insAAT | |
| ENST00000342058.9:c.1036_1037insAAT MANE Select | ENSP00000345008.4:p.Phe346Ter | |
| ENST00000267620.14:c.1159_1160insAAT | ENSP00000267620.10:p.Phe387Ter | |
| ENST00000342058.8:c.1036_1037insAAT | ENSP00000345008.4:p.Phe346Ter | |
| ENST00000554121.2:n.162_163insAAT | ||
| ENST00000556154.5:c.1051_1052insAAT | ENSP00000451982.1:p.Phe351Ter | |
| NM_006329.3:c.1036_1037insAAT , LRG_364t1:c.1036_1037insAAT | NP_006320.2:p.Phe346Ter | |
| XM_005267267.3:c.1087_1088insAAT | XP_005267324.1:p.Phe363Ter | |
| XM_011536356.1:c.1087_1088insAAT | XP_011534658.1:p.Phe363Ter | |
| XM_011536357.1:c.1036_1037insAAT | XP_011534659.1:p.Phe346Ter | |
| XM_011536358.1:c.868_869insAAT | XP_011534660.1:p.Phe290Ter | |
| XM_011536357.2:c.1036_1037insAAT | XP_011534659.1:p.Phe346Ter | |
| XM_011536358.2:c.868_869insAAT | XP_011534660.1:p.Phe290Ter | |
| XM_017020929.2:c.868_869insAAT | XP_016876418.1:p.Phe290Ter | |
| NM_001384158.1:c.1159_1160insAAT | NP_001371087.1:p.Phe387Ter | |
| NM_001384159.1:c.1087_1088insAAT | NP_001371088.1:p.Phe363Ter | |
| NM_001384160.1:c.1036_1037insAAT | NP_001371089.1:p.Phe346Ter | |
| NM_001384161.1:c.868_869insAAT | NP_001371090.1:p.Phe290Ter | |
| NM_001384162.1:c.868_869insAAT | NP_001371091.1:p.Phe290Ter | |
| NM_006329.4:c.1036_1037insAAT MANE Select | NP_006320.2:p.Phe346Ter |